SOX5 Gene Summary [Human]
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | SOX5 |
| Official Name | SRY-box transcription factor 5 [Source:HGNC Symbol;Acc:HGNC:11201] |
| Ensembl ID | ENSG00000134532 |
| Bio databases IDs | |
| Aliases | SRY-box transcription factor 5 |
| Synonyms | A730017D01RIK, LAMSHF, LOC100503149, LOC312831, L-SOX5, L-SOX5B, L-SOX5F, Sox5l1, SRY-box transcription factor 5, SRY (sex determining region Y)-box 5 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SOX5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- double-stranded DNA binding
- nucleic acid binding
- high mobility group (HMG)-box domain superfamily
- HMG (high mobility group) box
- HMG-box domain
- high mobility group
- protein binding
- sequence-specific DNA binding
- transcription factor activity
Pathways
Biological processes and signaling networks where the SOX5 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- pain
- schizophrenia
- hepatocellular carcinoma
- depressive disorder
- anxiety disorder
- epithelial cancer
- non-insulin-dependent diabetes mellitus
- experimental autoimmune encephalomyelitis
- insomnia
- Lamb-Shaffer syndrome
role in cell
- expression in
- activation in
- apoptosis
- proliferation
- differentiation
- quantity
- inactivation
- cloning
- senescence
- commitment
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SOX5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular response to transforming growth factor beta stimulus
- positive regulation of cartilage development
- cartilage condensation
- cell fate commitment
- chondrocyte differentiation
- positive regulation of mesenchymal stem cell differentiation
- transcription from RNA polymerase II promoter
- asymmetric neuroblast division
- positive regulation of chondrocyte differentiation
- cartilage development
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity